lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	6890
Symbol	TAP1
Synonymous	ABC17\|ABCB2\|APT1\|D6S114E\|PSF-1\|PSF1\|RING4\|TAP1*0102N\|TAP1N
Full name	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
Gene description	ABC transporter, MHC 1\|ATP-binding cassette sub-family B member 2\|ATP-binding cassette, sub-family B (MDR/TAP), member 2\|antigen peptide transporter 1\|peptide supply factor 1\|peptide transporter PSF1\|peptide transporter TAP1\|peptide transporter involved i
Cytoband	6p21.3
Gene type	protein-coding
Synonymous	MIM:170260; HGNC:HGNC:43; Ensembl:ENSG00000168394; HPRD:01359; Vega:OTTHUMG00000031067

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2221-3C>G; p.?; 6:32845788-32845788	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.1608G>T; p.E536D; 6:32848790-32848790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1608G>T; p.E536D; 6:32848790-32848790	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1091G>T; p.S364I; 6:32851083-32851083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>T; p.S364I; 6:32851083-32851083	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.712G>A; p.G238S; 6:32853105-32853105	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.712G>A; p.G238S; 6:32853105-32853105	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.2090A>G; p.D697G; 6:32847198-32847198	thyroid	other; neoplasm	Substitution - Missense
c.2090A>G; p.D697G; 6:32847198-32847198	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.929A>C; p.N310T; 6:32852204-32852204	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.533C>G; p.S178*; 6:32853284-32853284	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1099C>A; p.L367M; 6:32851075-32851075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.E791K; 6:32845635-32845635	ovary	other; neoplasm	Substitution - Missense
c.2371G>A; p.E791K; 6:32845635-32845635	ovary	other; neoplasm	Substitution - Missense
c.2052C>T; p.F684F; 6:32847544-32847544	skin	malignant_melanoma	Substitution - coding silent
c.1724G>A; p.R575H; 6:32848674-32848674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2025T>A; p.A675A; 6:32847571-32847571	skin	malignant_melanoma	Substitution - coding silent
c.1746G>T; p.Q582H; 6:32848652-32848652	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1942C>T; p.P648S; 6:32847654-32847654	skin; neck	malignant_melanoma	Substitution - Missense
c.1458C>T; p.I486I; 6:32849089-32849089	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1826C>G; p.A609G; 6:32848013-32848013	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1966C>T; p.Q656*; 6:32847630-32847630	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.909C>T; p.F303F; 6:32852224-32852224	skin	malignant_melanoma	Substitution - coding silent
c.271G>A; p.A91T; 6:32853546-32853546	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.671G>C; p.G224A; 6:32853146-32853146	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.155G>A; p.R52Q; 6:32853662-32853662	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1690delC; p.Q564fs*16; 6:32848708-32848708	liver	carcinoma	Deletion - Frameshift
c.325C>G; p.P109A; 6:32853492-32853492	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2350_2351insG; p.T785fs*>25; 6:32845655-32845656	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Insertion - Frameshift
c.240C>G; p.L80L; 6:32853577-32853577	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2334C>T; p.G778G; 6:32845672-32845672	breast	carcinoma	Substitution - coding silent
c.597C>A; p.A199A; 6:32853220-32853220	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.280G>T; p.V94L; 6:32853537-32853537	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.460G>A; p.A154T; 6:32853357-32853357	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1242G>T; p.V414V; 6:32850506-32850506	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.811C>A; p.L271I; 6:32852470-32852470	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2050T>G; p.F684V; 6:32847546-32847546	liver	carcinoma	Substitution - Missense
c.1591G>T; p.A531S; 6:32848807-32848807	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1177A>G; p.I393V; 6:32850997-32850997	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.473C>A; p.P158Q; 6:32853344-32853344	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1601C>A; p.S534Y; 6:32848797-32848797	breast	carcinoma	Substitution - Missense
c.1955G>A; p.G652E; 6:32847641-32847641	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.151G>A; p.G51S; 6:32853666-32853666	skin	malignant_melanoma	Substitution - Missense
c.1366G>T; p.E456*; 6:32850382-32850382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.457C>T; p.L153L; 6:32853360-32853360	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2223G>A; p.V741V; 6:32845783-32845783	large_intestine; colon	NS	Substitution - coding silent
c.1902C>T; p.H634H; 6:32847937-32847937	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.701G>A; p.R234H; 6:32853116-32853116	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1630C>T; p.R544C; 6:32848768-32848768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1630C>T; p.R544C; 6:32848768-32848768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1765C>T; p.R589C; 6:32848074-32848074	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1909C>A; p.L637M; 6:32847930-32847930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1264A>G; p.K422E; 6:32850484-32850484	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1125T>A; p.C375*; 6:32851049-32851049	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.717C>T; p.C239C; 6:32853100-32853100	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1429-1G>T; p.?; 6:32849119-32849119	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1454G>C; p.G485A; 6:32849093-32849093	pancreas	carcinoma	Substitution - Missense
c.717C>T; p.C239C; 6:32853100-32853100	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1820T>C; p.V607A; 6:32848019-32848019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1356A>C; p.E452D; 6:32850392-32850392	breast	carcinoma	Substitution - Missense
c.573G>A; p.L191L; 6:32853244-32853244	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1587G>A; p.Q529Q; 6:32848811-32848811	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2083+1G>A; p.?; 6:32847512-32847512	stomach	carcinoma; adenocarcinoma	Unknown
c.2252G>C; p.R751P; 6:32845754-32845754	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1148G>C; p.G383A; 6:32851026-32851026	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1877G>A; p.G626E; 6:32847962-32847962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.L136L; 6:32853409-32853409	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1254A>G; p.E418E; 6:32850494-32850494	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.946G>A; p.V316M; 6:32852187-32852187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1563G>A; p.L521L; 6:32848835-32848835	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1969G>T; p.E657*; 6:32847627-32847627	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1461_1462delCT; p.Y488fs*52; 6:32849085-32849086	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1269C>T; p.S423S; 6:32850479-32850479	skin	malignant_melanoma	Substitution - coding silent
c.1312C>T; p.R438*; 6:32850436-32850436	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1312C>T; p.R438*; 6:32850436-32850436	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1312C>T; p.R438*; 6:32850436-32850436	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1746G>A; p.Q582Q; 6:32848652-32848652	skin	malignant_melanoma	Substitution - coding silent
c.394delG; p.A132fs*25; 6:32853423-32853423	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.432C>T; p.S144S; 6:32853385-32853385	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1168G>T; p.V390F; 6:32851006-32851006	liver	carcinoma	Substitution - Missense
c.2134G>T; p.A712S; 6:32847154-32847154	skin	malignant_melanoma	Substitution - Missense
c.1446G>A; p.L482L; 6:32849101-32849101	skin	malignant_melanoma	Substitution - coding silent
c.2058T>C; p.S686S; 6:32847538-32847538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2041_2042insG; p.A681fs*3; 6:32847554-32847555	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1197C>T; p.F399F; 6:32850977-32850977	skin	malignant_melanoma	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation